ORPHA:2032
Idiopathic pulmonary fibrosis
Synonyms: IPF
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
An interstitial lung disease with a poor prognosis, that is characterized by the progressive formation of scar tissue within the lungs in the absence of any known cause.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic pulmonary fibrosis | IPF |
| fr | Fibrose pulmonaire idiopathique | FPI · Fibrose interstitielle diffuse idiopathique |
| de | Lungenfibrose, idiopathische | = en |
| es | Fibrosis pulmonar idiopática | FPI |
| it | Fibrosi polmonare idiopatica | Alveolite fibrosante criptogenetica · CFA · Polmonite interstiziale usuale · UIP |
| nl | Idiopathische pulmonale fibrose | IPF · Idiopathische longfibrose |
| pt | Fibrose pulmonar idiopática | Doença intersticial pulmonar |
| pl | Idiopatyczne włóknienie płuc | CFA · Kryptogenne włókniejące zapalenie pęcherzyków płucnych · UIP · Zwykłe śródmiąższowe zapalenie płuc |
| cs | Idiopatická plicní fibróza | KFA · Kryptogenní fibrotizující alveolitida · UIP · Obvyklá intersticiální pneumonie |
| uk | Ідіопатичний легеневий фіброз | = en |
| zh | 特发性肺纤维化 | 隐原性致纤维化性肺泡炎 |
| tr | İdiyopatik pulmoner fibroz | CFA · UIP · Normal interstisyel pnömoni · Kriptojenik fibrozan alveolit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178500 | E | validated | |
| OMIM | 616371 | BTNT | validated | |
| OMIM | 616373 | BTNT | validated | |
| OMIM | 619611 | BTNT | validated | |
| ICD-10 | J84.1 | NTBT | inclusion | validated |
| ICD-11 | CB03.4 | E | specific | validated |
| MONDO | 800504 | E | validated | |
| MeSH | D054990 | E | validated | |
| UMLS | C1800706 | E | validated | |
| GARD | 8609 | E | validated | |
| MedDRA | 10021240 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98300Idiopathic interstitial pneumonia
rare respiratory diseases; rare transplant-related disorders
No children.
4
Genes
14 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCA3 | Candidate gene tested in | Not yet assessed | HGNC:33 | ENSG00000167972 | 601615 | 16p13.3 | ATP binding cassette subfamily A member 3 | 25553246[PMID] |
| ATP11A | Major susceptibility factor in | Assessed | HGNC:13552 | ENSG00000068650 | 605868 | 13q34 | ATPase phospholipid transporting 11A | 23583980[PMID] |
| DPP9 | Major susceptibility factor in | Assessed | HGNC:18648 | ENSG00000142002 | 608258 | 19p13.3 | dipeptidyl peptidase 9 | 23583980[PMID] |
| DSP | Major susceptibility factor in | Assessed | HGNC:3052 | ENSG00000096696 | 125647 | 6p24.3 | desmoplakin | 23583980[PMID] |
| FAM13A | Major susceptibility factor in | Assessed | HGNC:19367 | ENSG00000138640 | 613299 | 4q22.1 | family with sequence similarity 13 member A | 23583980[PMID] |
| MUC5B | Major susceptibility factor in | Assessed | HGNC:7516 | ENSG00000117983 | 600770 | 11p15.5 | mucin 5B, oligomeric mucus/gel-forming | 21506741[PMID]_21506748[PMID] |
| PARN | Major susceptibility factor in | Assessed | HGNC:8609 | ENSG00000140694 | 604212 | 16p13.12 | poly(A)-specific ribonuclease | 25848748[PMID] |
| RTEL1 | Major susceptibility factor in | Assessed | HGNC:15888 | ENSG00000258366 | 608833 | 20q13.33 | regulator of telomere elongation helicase 1 | 25848748[PMID] |
| SFTPA1 | Major susceptibility factor in | Assessed | HGNC:10798 | ENSG00000122852 | 178630 | 10q22.3 | surfactant protein A1 | 13680361[PMID] |
| SFTPA2 | Major susceptibility factor in | Assessed | HGNC:10799 | ENSG00000185303 | 178642 | 10q22.3 | surfactant protein A2 | 19100526[PMID] |
| SFTPC | Major susceptibility factor in | Assessed | HGNC:10802 | ENSG00000168484 | 178620 | 8p21.3 | surfactant protein C | 15516475[PMID] |
| STN1 | Major susceptibility factor in | Assessed | HGNC:26200 | ENSG00000107960 | 613128 | 10q24.33 | STN1 subunit of CST complex | 23583980[PMID] |
| TERC | Major susceptibility factor in | Assessed | HGNC:11727 | ENSG00000270141 | 602322 | 3q26.2 | telomerase RNA component | 17392301[PMID]_18753630[PMID] |
| TERT | Major susceptibility factor in | Assessed | HGNC:11730 | ENSG00000164362 | 187270 | 5p15.33 | telomerase reverse transcriptase | 17460043[PMID] |
5
Prevalence and incidence
17 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 16.125 / 100 000 | Worldwide | Value and class | Validated | 34233665[PMID]_ORPHANET |
| Annual incidence | 1-9 / 100 000 | 5.55 / 100 000 | Worldwide | Value and class | Validated | 34233665[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 29.8 / 100 000 | Canada | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-5 / 10 000 | 15.35 / 100 000 | Canada | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.6 / 100 000 | Finland | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.3 / 100 000 | Finland | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.2 / 100 000 | France | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.8 / 100 000 | France | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-5 / 10 000 | 21.2 / 100 000 | Italy | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.6 / 100 000 | Italy | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.9 / 100 000 | Japan | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-5 / 10 000 | 37 / 100 000 | Korea, Republic of | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-5 / 10 000 | 13 / 100 000 | Korea, Republic of | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.6 / 100 000 | United Kingdom | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.2 / 100 000 | United Kingdom | Value and class | Validated | 34233665[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.7 / 100 000 | United States | Value and class | Validated | 34233665[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.6 / 100 000 | United States | Value and class | Validated | 34233665[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
20 annotations · validated 2023-09-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| Frequent (79-30%) | ||
| HP:0001063 | Acrocyanosis | |
| HP:0002110 | Bronchiectasis | |
| HP:0100759 | Clubbing of fingers | |
| HP:0012735 | Cough | |
| HP:0030830 | Crackles | |
| HP:0045051 | Decreased DLCO | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | |
| HP:0025175 | Honeycomb lung | Diagnostic criterion |
| HP:0002206 | Pulmonary fibrosis | Diagnostic criterion |
| HP:0032341 | Reduced forced vital capacity | |
| HP:0025390 | Reticular pattern on pulmonary HRCT | Diagnostic criterion |
| HP:0031631 | Subpleural honeycombing | |
| HP:0031950 | Usual interstitial pneumonia | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0003546 | Exercise intolerance | |
| HP:0033367 | Orthodeoxia | |
| HP:0010444 | Pulmonary insufficiency | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21471066[PMID]_29742380[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2032
- This record as JSON: /data/d/2032.json